Associated Papers
Suspected case of benign familial fleck retina with functional loss.
Constable PA et al.
Clinical Case Reports, 2023
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
Cipriani V et al.
Genes, 2020
32340307 (PubMed )
Supplement: genes-11-00460-s001.pdf
Phospholipase A2 group v in benign familial fleck retina in a set of triplets.
Bin NJ et al.
Retina (philadelphia, Pa.), 2015
Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina.
Sergouniotis PI et al.
American Journal of Human Genetics, 2011
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